Mutagenetix > Incidental Mutation

Incidental Mutation 'R9525:Fgd2'

719183

Institutional Source

Beutler Lab

Gene Symbol

Fgd2

Ensembl Gene

ENSMUSG00000024013

Gene Name

FYVE, RhoGEF and PH domain containing 2

Synonyms

tcs2, Tcd-2, Tcd2, tcs-2

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.235) question?

Stock #

R9525 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

29579878-29598509 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 29583955 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 123 (L123Q)

Ref Sequence

ENSEMBL: ENSMUSP00000024810 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024810] [ENSMUST00000123989]

AlphaFold

Q8BY35

Predicted Effect

probably damaging
Transcript: ENSMUST00000024810
AA Change: L123Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000024810
Gene: ENSMUSG00000024013
AA Change: L123Q

Domain	Start	End	E-Value	Type
RhoGEF	106	289	4.49e-66	SMART
PH	320	420	2.09e-16	SMART
FYVE	450	519	1.07e-28	SMART
PH	545	643	5.09e-6	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000123989
AA Change: L123Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118828
Gene: ENSMUSG00000024013
AA Change: L123Q

Domain	Start	End	E-Value	Type
RhoGEF	106	289	4.49e-66	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to a family of guanine nucleotide exchange factors (GEFs) which control cytoskeleton-dependent membrane rearrangements by activating the cell division cycle 42 (CDC42) protein. This gene is expressed in B lymphocytes, macrophages, and dendritic cells. The encoded protein may play a role in leukocyte signaling and vesicle trafficking in antigen-presenting cells in the immune system. [provided by RefSeq, Oct 2016]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm2	T	A	4: 144,282,000 (GRCm39)	D264V	possibly damaging	Het
Adgrv1	C	T	13: 81,593,453 (GRCm39)	G4178E	possibly damaging	Het
Alpk2	A	G	18: 65,399,288 (GRCm39)	Y2097H	probably damaging	Het
Anapc2	T	C	2: 25,166,339 (GRCm39)	S369P	probably damaging	Het
Atr	C	T	9: 95,792,610 (GRCm39)	A1644V	possibly damaging	Het
Camsap1	G	A	2: 25,843,962 (GRCm39)	H230Y	probably benign	Het
Cbx7	A	C	15: 79,814,797 (GRCm39)	W35G	probably damaging	Het
Cc2d2b	T	C	19: 40,773,430 (GRCm39)	Y498H	probably damaging	Het
Ccdc162	T	A	10: 41,559,222 (GRCm39)	R126W	probably damaging	Het
Cd274	T	A	19: 29,359,879 (GRCm39)	L228Q	probably benign	Het
Cfap57	A	T	4: 118,433,778 (GRCm39)	I1000N	probably damaging	Het
Cfhr4	G	T	1: 139,702,250 (GRCm39)	T78K	probably damaging	Het
Chadl	C	A	15: 81,578,220 (GRCm39)	G470C	probably damaging	Het
Clasp2	T	C	9: 113,740,677 (GRCm39)	L1217P	probably damaging	Het
Crnkl1	A	G	2: 145,770,198 (GRCm39)	V215A	probably benign	Het
Dbx2	G	T	15: 95,552,304 (GRCm39)	H114N	probably benign	Het
Ddb2	T	G	2: 91,065,180 (GRCm39)	T82P	probably benign	Het
Emc8	T	C	8: 121,394,656 (GRCm39)	Y21C	probably damaging	Het
Epha1	A	T	6: 42,344,758 (GRCm39)	M66K	probably damaging	Het
Fan1	A	C	7: 64,022,007 (GRCm39)		probably null	Het
Flnb	T	A	14: 7,905,481 (GRCm38)	V1077E	probably damaging	Het
Fnbp1l	A	T	3: 122,352,703 (GRCm39)	M251K	probably damaging	Het
Gal3st2c	T	A	1: 93,935,928 (GRCm39)	F93L	probably damaging	Het
Gdf2	T	C	14: 33,667,564 (GRCm39)	*429Q	probably null	Het
Gdpd5	A	G	7: 99,104,156 (GRCm39)	T455A	possibly damaging	Het
Gm8356	G	T	14: 17,691,339 (GRCm39)	Q109K		Het
Gpr20	A	T	15: 73,567,681 (GRCm39)	V236E	probably benign	Het
Gpr39	T	C	1: 125,800,323 (GRCm39)	V358A	probably damaging	Het
Grin1	T	C	2: 25,187,472 (GRCm39)	N613D	probably damaging	Het
H2bc15	G	T	13: 21,938,305 (GRCm39)	A5S	unknown	Het
Hepacam2	A	G	6: 3,476,046 (GRCm39)	V293A	probably benign	Het
Igf1r	G	A	7: 67,864,682 (GRCm39)	R1160Q	probably damaging	Het
Iqcd	T	C	5: 120,738,217 (GRCm39)	Y12H	probably benign	Het
Itih1	T	C	14: 30,658,711 (GRCm39)	S393G	probably benign	Het
Klhl33	T	C	14: 51,128,929 (GRCm39)	M507V	probably null	Het
Mast4	G	T	13: 102,872,944 (GRCm39)	H2141Q	probably benign	Het
Mkrn2	T	A	6: 115,587,486 (GRCm39)	D54E	probably damaging	Het
Mrm3	A	G	11: 76,141,104 (GRCm39)	T371A	possibly damaging	Het
Msantd5f3	G	A	4: 73,573,061 (GRCm39)	S100N	probably benign	Het
Mylk2	T	A	2: 152,759,552 (GRCm39)	M414K	probably damaging	Het
Nlrp4b	A	G	7: 10,448,748 (GRCm39)	E317G	probably damaging	Het
Or51b6b	A	T	7: 103,310,142 (GRCm39)	I105N	probably damaging	Het
Or51i2	A	G	7: 103,689,820 (GRCm39)	I272M	possibly damaging	Het
Or8k20	A	G	2: 86,106,484 (GRCm39)	S116P	probably benign	Het
Pcdhb18	T	A	18: 37,624,887 (GRCm39)	V739E	probably damaging	Het
Pkhd1l1	A	T	15: 44,448,322 (GRCm39)	T3834S	possibly damaging	Het
Pkp3	A	G	7: 140,668,310 (GRCm39)	D546G	probably damaging	Het
Pot1a	A	T	6: 25,745,916 (GRCm39)	M595K	probably benign	Het
Pus7l	A	G	15: 94,438,764 (GRCm39)	I27T	probably damaging	Het
Rbp3	A	G	14: 33,676,402 (GRCm39)	I117V	probably benign	Het
Rnf19a	A	T	15: 36,247,375 (GRCm39)	L454H	probably damaging	Het
Rps6kb1	C	A	11: 86,410,746 (GRCm39)	K167N	possibly damaging	Het
Saxo1	A	T	4: 86,363,186 (GRCm39)	Y432*	probably null	Het
Setdb2	A	T	14: 59,646,841 (GRCm39)	V558E	probably benign	Het
Spmap2l	A	G	5: 77,195,138 (GRCm39)	N104S	probably benign	Het
Tbck	T	C	3: 132,456,966 (GRCm39)	F627L	probably damaging	Het
Tbpl2	T	G	2: 23,986,547 (GRCm39)	M1L	probably benign	Het
Timp2	A	C	11: 118,194,678 (GRCm39)	D170E	probably benign	Het
Tomm40	A	G	7: 19,436,812 (GRCm39)	Y303H	probably damaging	Het
Trgv5	T	C	13: 19,376,885 (GRCm39)	C111R	probably damaging	Het
Trhr	T	C	15: 44,060,873 (GRCm39)	I131T	possibly damaging	Het
Vmn1r159	A	G	7: 22,542,417 (GRCm39)	V205A	probably damaging	Het
Vmn2r25	G	T	6: 123,800,164 (GRCm39)	T726K	probably damaging	Het
Wwox	T	A	8: 115,433,105 (GRCm39)	V257E	probably benign	Het
Xxylt1	A	G	16: 30,869,593 (GRCm39)	I169T	probably benign	Het
Zfp1007	A	T	5: 109,824,846 (GRCm39)	N201K		Het
Zfp457	T	C	13: 67,441,492 (GRCm39)	Y361C	probably damaging	Het

Other mutations in Fgd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01397:Fgd2	APN	17	29,586,949 (GRCm39)	missense	probably damaging	1.00
IGL01505:Fgd2	APN	17	29,585,971 (GRCm39)	missense	probably damaging	1.00
IGL03240:Fgd2	APN	17	29,580,135 (GRCm39)	splice site	probably benign
ceci	UTSW	17	29,587,350 (GRCm39)	splice site	probably null
R0046:Fgd2	UTSW	17	29,593,964 (GRCm39)	splice site	probably benign
R0271:Fgd2	UTSW	17	29,585,982 (GRCm39)	missense	possibly damaging	0.94
R0594:Fgd2	UTSW	17	29,584,526 (GRCm39)	missense	probably damaging	1.00
R0612:Fgd2	UTSW	17	29,597,321 (GRCm39)	missense	probably benign	0.45
R1470:Fgd2	UTSW	17	29,593,082 (GRCm39)	splice site	probably benign
R1551:Fgd2	UTSW	17	29,597,383 (GRCm39)	missense	probably damaging	1.00
R1596:Fgd2	UTSW	17	29,595,904 (GRCm39)	missense	probably benign	0.43
R1664:Fgd2	UTSW	17	29,588,273 (GRCm39)	missense	probably damaging	1.00
R1689:Fgd2	UTSW	17	29,582,696 (GRCm39)	missense	probably benign
R1691:Fgd2	UTSW	17	29,597,918 (GRCm39)	nonsense	probably null
R1695:Fgd2	UTSW	17	29,587,219 (GRCm39)	missense	possibly damaging	0.88
R2697:Fgd2	UTSW	17	29,595,895 (GRCm39)	missense	probably damaging	1.00
R3500:Fgd2	UTSW	17	29,584,575 (GRCm39)	missense	possibly damaging	0.74
R3689:Fgd2	UTSW	17	29,597,924 (GRCm39)	missense	probably benign	0.00
R4583:Fgd2	UTSW	17	29,586,052 (GRCm39)	missense	possibly damaging	0.87
R4871:Fgd2	UTSW	17	29,592,223 (GRCm39)	missense	possibly damaging	0.89
R5011:Fgd2	UTSW	17	29,593,954 (GRCm39)	critical splice donor site	probably null
R5209:Fgd2	UTSW	17	29,587,350 (GRCm39)	splice site	probably null
R7106:Fgd2	UTSW	17	29,595,944 (GRCm39)	nonsense	probably null
R7139:Fgd2	UTSW	17	29,592,229 (GRCm39)	missense	probably damaging	1.00
R7712:Fgd2	UTSW	17	29,595,886 (GRCm39)	missense	probably benign	0.01
R7833:Fgd2	UTSW	17	29,586,369 (GRCm39)	missense	possibly damaging	0.81
R7834:Fgd2	UTSW	17	29,583,925 (GRCm39)	missense	probably damaging	1.00
R7913:Fgd2	UTSW	17	29,593,019 (GRCm39)	missense	probably damaging	1.00
R8547:Fgd2	UTSW	17	29,583,934 (GRCm39)	missense	probably damaging	0.99
R8686:Fgd2	UTSW	17	29,597,997 (GRCm39)	missense	probably benign
R9088:Fgd2	UTSW	17	29,583,913 (GRCm39)	missense	probably damaging	1.00
R9601:Fgd2	UTSW	17	29,593,860 (GRCm39)	missense	probably benign	0.09
Z1177:Fgd2	UTSW	17	29,597,300 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- CTATGAAAGCTGGTCCAGTGC -3'
(R):5'- TCAAACGAGGCTGCCATGTATG -3'

Sequencing Primer
(F):5'- AAAGCTGGTCCAGTGCCAGAC -3'
(R):5'- CATGTATGAGGCTGGCCAG -3'

Posted On

2022-07-18